Hb South Florida beta1(NA1)Val->Met; amino terminus extended with a
methionyl residue: (-1)Met-(+1)Met-(+2)His-Leu-
HEMATOLOGY Probably normal
ELECTROPHORESIS Hb X focuses ahead of Hb A in IEF
CHROMATOGRAPHY Hb X elutes with Hb A1c in cation exchange HPLC
STRUCTURE STUDIES Tryptic digestion of AE-betaX chain; separation of peptides by reversed phase HPLC; amino acid analysis; sequencing
DNA ANALYSES Not reported; presumed mutation GTG->ATG at codon beta1; this prevents the removal of the initiator methionine
STABILITY Not reported
OCCURRENCE Found in members of a Caucasian family
OTHER INFORMATION Quantity in the heterozygote 12-20%; about 20% of the variant is acetylated
1. Boissel, J-P., Kasper, T.J., Shah, S.C., Malone, J.I., and Bunn, H.F.: Proc. Natl. Acad. Sci. USA, 82:8448, 1985.

This material is from the book A Syllabus of Human Hemoglobin Variants (1996) by Titus H.J. Huisman, Marianne F.H. Carver, and Georgi D. Efremov, published by The Sickle Cell Anemia Foundation in Augusta, GA, USA. Copyright © 1996 by Titus H.J. Huisman. All rights reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, microfilming and recording, or by any information storage and retrieval systems, without written permission.